nsv5642028
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Ebert et al. 2021
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 326 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 87 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5642028 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 144,023,148 | 144,023,148 | ||
| nsv5642028 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003315923.1 | Chr8|NW_00 3315923.1 | 361,793 | 361,793 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17155211 | insertion | SAMN00001694 | Sequencing | Sequence alignment | 8,610 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17155211 | Submitted genomic | NC_000008.11:g.144 023148_144023149in s321 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 144,023,148 | 144,023,148 | ||
| nssv17155211 | Remapped | Perfect | NW_003315923.1:g.3 61793_361794ins321 | GRCh37.p13 | First Pass | NW_003315923.1 | Chr8|NW_00 3315923.1 | 361,793 | 361,793 |